Relation between temperature and mortality in thirteen Spanish cities

In this study we examined the shape of the association between temperature and mortality in 13 Spanish cities representing a wide range of climatic and socio demographic conditions. The temperature value linked with minimum mortality (MMT) and the slopes before and after the turning point (MMT) were calculated. Most cities showed a V-shaped temperature-mortality relationship. MMTs were generally higher in cities with warmer climates. Cold and heat effects also depended on climate: effects were greater in hotter cities but lesser in cities with higher variability. The effect of heat was greater than the effect of cold. The effect of cold and MMT was, in general, greater for cardio-respiratory mortality than for total mortality, while the effect of heat was, in general, greater among the elderly

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

Retinitis Pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. RP is the leading cause of visual loss in individuals younger than 60 years, with a prevalence of about 1 in 4000. The molecular genetic diagnosis of autosomal recessive RP (arRP) is challenging due to the large genetic and clinical heterogeneity. Traditional methods for sequencing arRP genes are often laborious and not easily available and a screening technique that enables the rapid detection of the genetic cause would be very helpful in the clinical practice. The goal of this study was to develop and apply microarray-based resequencing technology capable of detecting both known and novel mutations on a single high-throughput platform. Hence, the coding regions and exon/intron boundaries of 16 arRP genes were resequenced using microarrays in 102 Spanish patients with clinical diagnosis of arRP. All the detected variations were confirmed by direct sequencing and potential pathogenicity was assessed by functional predictions and frequency in controls. For validation purposes 4 positive controls for variants consisting of previously identified changes were hybridized on the array. As a result of the screening, we detected 44 variants, of which 15 are very likely pathogenic detected in 14 arRP families (14%). Finally, the design of this array can easily be transformed in an equivalent diagnostic system based on targeted enrichment followed by next generation sequencing.